Two siblings with uncombable hair syndrome: A new pathogenic variant.
Carlos Calvo-AsínSara I Palencia-PérezJuan F Quesada-EspinosaJose Puig-BuendiaRaquel Cavestany-RodríguezVirginia Velasco-TamarizPublished in: Pediatric dermatology (2024)
Two siblings presented with straw-colored, frizzy, and wiry hair. They had no associated abnormalities and no family history of abnormal hair. Trichoscopy showed the longitudinal groove in the hair shafts, characteristic of uncombable hair syndrome. Molecular genetic analysis revealed a new pathogenic variant (c.1374dup; p. Val459ArgfsTer15) in PADI3, not previously described.